基因名 |
突变 |
UNC13D(NM_199242,unc-13 homolog D (C. elegans),1090aa) |
g.17:73824125C>T,c.3194G>A,p.R1065Q |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54919180C>A,c.6514C>A,p.L2172M |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54860107C>A,c.6068C>A,p.A2023D |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54825264C>T,c.5696C>T,p.T1899I |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54707217G>A,c.4885G>A,p.E1629K |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54614271G>T,c.4403G>T,p.R1468L |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54614195A>C,c.4327A>C,p.T1443P |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54529830G>A,c.3170G>A,p.R1057Q |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54435821G>A,c.3011G>A,p.R1004Q |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54308005C>T,c.2905C>T,p.R969C |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54307925C>T,c.2825C>T,p.S942L |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54307688A>G,c.2588A>G,p.D863G |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54307661C>T,c.2561C>T,p.T854M |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54307601G>A,c.2501G>A,p.R834Q |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54307378T>A,c.2278T>A,p.Y760N |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54306925G>A,c.1825G>A,p.G609S |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54306742C>T,c.1642C>T,p.R548C |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54306716G>A,c.1616G>A,p.S539N |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54306273A>T,c.1173A>T,p.L391F |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54306012C>G,c.912C>G,p.D304E |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54305612G>A,c.512G>A,p.R171H |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54305605G>A,c.505G>A,p.G169R |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54305206C>T,c.106C>T,p.R36C |
UNC13C(NM_001080534,unc-13 homolog C (C. elegans),2214aa) |
g.15:54305191A>G,c.91A>G,p.K31E |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35403767C>T,c.4513C>T,p.P1505S |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35403554A>G,c.4448A>G,p.K1483R |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35403178G>A,c.4252G>A,p.D1418N |
UNC13B(NM_006377,unc-13 homolog B (C. elegans),1591aa) |
g.9:35399709G>A,c.4072G>A,p.A1358T |